nsv3903718
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,294,427
- Description:GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9892 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 9892 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2767 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 173,408,061 | 177,702,487 |
| nsv3903718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,272,789 | 178,567,215 |
| nsv3903718 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 173,981,035 | 178,275,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121125 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052555.6, VCV000058767.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121125 | Submitted genomic | NC_000002.12:g.(?_ 173408061)_(177702 487_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 173,408,061 | 177,702,487 |
| nssv15121125 | Submitted genomic | NC_000002.11:g.(?_ 174272789)_(178567 215_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,272,789 | 178,567,215 |
| nssv15121125 | Submitted genomic | NC_000002.10:g.(?_ 173981035)_(178275 461_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 173,981,035 | 178,275,461 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121125 | GRCh37: NC_000002.11:g.(?_174272789)_(178567215_?)del, GRCh38: NC_000002.12:g.(?_173408061)_(177702487_?)del, NCBI36: NC_000002.10:g.(?_173981035)_(178275461_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052555.6, VCV000058767.1 | 1 |